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NM_001379270.1(CNGA1):c.1915C>T (p.Arg639Ter) AND Retinitis pigmentosa

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 1, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000778729.11

Allele description [Variation Report for NM_001379270.1(CNGA1):c.1915C>T (p.Arg639Ter)]

NM_001379270.1(CNGA1):c.1915C>T (p.Arg639Ter)

Genes:
CNGA1:cyclic nucleotide gated channel subunit alpha 1 [Gene - OMIM - HGNC]
LOC101927157:uncharacterized LOC101927157 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
4p12
Genomic location:
Preferred name:
NM_001379270.1(CNGA1):c.1915C>T (p.Arg639Ter)
HGVS:
  • NC_000004.12:g.47936567G>A
  • NG_009193.1:g.81378C>T
  • NM_000087.5:c.1915C>T
  • NM_001142564.2:c.1915C>T
  • NM_001379270.1:c.1915C>TMANE SELECT
  • NP_000078.3:p.Arg639Ter
  • NP_001136036.2:p.Arg639Ter
  • NP_001366199.1:p.Arg639Ter
  • NC_000004.11:g.47938584G>A
  • NM_000087.3:c.1927C>T
Protein change:
R639*
Links:
dbSNP: rs750954043
NCBI 1000 Genomes Browser:
rs750954043
Molecular consequence:
  • NM_000087.5:c.1915C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142564.2:c.1915C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001379270.1:c.1915C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000915087Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)		Uncertain significance
(May 1, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000915087.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CNGA1 c.1927C>T (p.Arg643Ter) variant is a stop-gained variant that is predicted to cause premature truncation of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.00001 in the total population of the Genome Aggregation Database. This variant is located in the last exon and may escape nonsense-mediated decay. Based on the variant frequency, disease prevalence, disease penetrance and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, the p.Arg643Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for autosomal recessive retinitis pigmentosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024